A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992246



Internal ID7077920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:33593931..33603197hg38UCSC Ensembl
Outerchr6:33561708..33570974hg19UCSC Ensembl
Outerchr6:33669686..33678952hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg389267
hg199267
hg189267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564152
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992246
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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